AutismKB 2.0

Evidence Details for TRPV5


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Basic Information Top
Gene Symbol:TRPV5 ( CAT2,ECAC1,OTRPC3 )
Gene Full Name: transient receptor potential cation channel, subfamily V, member 5
Band: 7q34
Quick LinksEntrez ID:56302; OMIM: 606679; Uniprot ID:TRPV5_HUMAN; ENSEMBL ID: ENSG00000127412; HGNC ID: 3145
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRPV5|56302|nucleotide
ATGGGGGGTTTTCTACCTAAGGCAGAAGGGCCCGGGAGCCAACTCCAGAAACTTCTGCCCTCCTTTCTGGTCAGAGAACAAGACTGGGACCAGCACCTGGACAAG
CTTCATATGCTGCAGCAGAAGAGGATTCTAGAGTCTCCACTGCTTCGAGCATCCAAGGAAAATGACCTGTCTGTTCTTAGGCAACTTCTACTGGACTGCACCTGT
GACGTTCGACAAAGAGGAGCCCTGGGGGAGACGGCGCTGCACATAGCAGCCCTCTATGACAACTTGGAGGCGGCCTTGGTGCTGATGGAGGCTGCCCCAGAGCTG
GTCTTTGAGCCCACCACATGTGAGGCTTTTGCAGGTCAGACTGCACTGCACATCGCTGTTGTGAACCAGAATGTGAACCTGGTGCGTGCCCTGCTCACCCGCAGG
GCCAGTGTCTCTGCCAGAGCCACAGGCACTGCCTTCCGCCGTAGTCCCCGCAACCTCATCTACTTTGGGGAGCACCCTTTGTCCTTTGCTGCCTGTGTGAACAGC
GAGGAGATCGTGCGGCTGCTCATTGAGCATGGAGCTGACATCAGGGCCCAGGACTCCCTGGGAAACACAGTATTACACATCCTCATCCTCCAGCCCAACAAAACC
TTTGCCTGCCAGATGTACAACCTGCTGCTGTCCTACGATGGACATGGGGACCACCTGCAGCCCCTGGACCTTGTGCCCAATCACCAGGGTCTCACCCCCTTCAAG
CTGGCTGGAGTGGAGGGTAACACTGTGATGTTCCAGCACCTGATGCAGAAGCGGAGGCACATCCAGTGGACGTATGGACCCCTGACCTCCATTCTCTACGACCTC
ACAGAGATCGACTCCTGGGGAGAGGAGCTGTCCTTCCTGGAGCTTGTGGTCTCCTCTGATAAACGAGAGGCTCGCCAAATTCTGGAACAGACCCCAGTGAAGGAG
CTGGTGAGCTTCAAGTGGAACAAGTATGGCCGGCCGTACTTCTGCATCCTGGCTGCCTTGTACCTGCTCTACATGATCTGCTTTACCACGTGCTGCGTCTACCGC
CCCCTTAAGTTTCGTGGTGGCAACCGCACTCATTCTCGAGACATCACCATCCTCCAGCAAAAACTACTACAGGAGGCCTATGAGACACGTGAAGATATCATCAGG
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>TRPV5|56302|protein
MGGFLPKAEGPGSQLQKLLPSFLVREQDWDQHLDKLHMLQQKRILESPLLRASKENDLSVLRQLLLDCTCDVRQRGALGETALHIAALYDNLEAALVLMEAAPEL
VFEPTTCEAFAGQTALHIAVVNQNVNLVRALLTRRASVSARATGTAFRRSPRNLIYFGEHPLSFAACVNSEEIVRLLIEHGADIRAQDSLGNTVLHILILQPNKT
FACQMYNLLLSYDGHGDHLQPLDLVPNHQGLTPFKLAGVEGNTVMFQHLMQKRRHIQWTYGPLTSILYDLTEIDSWGEELSFLELVVSSDKREARQILEQTPVKE
LVSFKWNKYGRPYFCILAALYLLYMICFTTCCVYRPLKFRGGNRTHSRDITILQQKLLQEAYETREDIIRLVGELVSIVGAVIILLLEIPDIFRVGASRYFGKTI
LGGPFHVIIITYASLVLVTMVMRLTNTNGEVVPMSFALVLGWCSVMYFTRGFQMLGPFTIMIQKMIFGDLMRFCWLMAVVILGFASAFYIIFQTEDPTSLGQFYD
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top